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Article

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

PLoS genetics - 1 Nov 2020

Tcheandjieu Catherine, Aguirre Matthew, Gustafsson Stefan, Saha Priyanka, Potiny Praneetha, Haendel Melissa, Ingelsson Erik, Rivas Manuel A, Priest James R

Abstract excerpt

The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a single phenotype of a complex syndrome may not meet criteria for clinical diagnosis or genetic testing. Here, we present a phenome-wide association study (PheWAS) approach to systematically...

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PMID: 33226994
DOI: 10.1371/journal.pgen.1008802
PMCID: PMC7735621

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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